Varaico: Literature-Extracted Genetic Variants

Gene:PIMREG
Variant:p.L111P
Back to variants list

PIMREG

NM_019013.3:p.L111P

Associated Papers

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."